A scalable approach to resolving variants of uncertain significance.
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| Title: | A scalable approach to resolving variants of uncertain significance. |
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| Authors: | Tejura M; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Chen Y; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.; These authors contributed equally., McEwen AE; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Stewart R; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.; These authors contributed equally., Sverchkov Y; Department of Biostatistics and Medical Informatics, University of Wisconsin, Madison, WI, USA.; These authors contributed equally., Laval F; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; These authors contributed equally., Woo I; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Zeiberg D; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.; These authors contributed equally., Shen R; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; These authors contributed equally., Fayer S; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Stone J; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Smith N; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Casadei S; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Wang ZR; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA., Snyder MW; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Capodanno BJ; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Gupta P; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Division of Medical Genetics, School of Medicine, University of Washington, Seattle, WA, USA., Benazouz M; Molecular Engineering and Sciences Institute, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA., Jain S; The Institute for Experiential AI, Northeastern University, Boston, MA, USA., Heidl S; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Muffley L; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Dong S; Department of Genetics, Stanford University, Stanford, CA, USA., Hitz BC; Department of Genetics, Stanford University, Stanford, CA, USA., Gabdank I; Department of Genetics, Stanford University, Stanford, CA, USA., Lin K; Department of Genetics, Stanford University, Stanford, CA, USA., Da EY; Department of Bioinformatics, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia., Best S; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Grindstaff S; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Reinhart D; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Rodriguez-Salas L; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Seid O; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Vandi AJ; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA., Wenman C; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Wheelock MK; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA., Pendyala S; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Medical Scientist Training Program, University of Washington, Seattle, WA, USA., Holmes D; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA., Xu A; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Hosokai A; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Tixhon M; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Reno C; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Ewald JD; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, UK., Spirohn-Fitzgerald K; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Teelucksingh T; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Hao T; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Chen ZS; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Haghighi M; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hamid AK; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Miglietta EA; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisbart E; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Coppin G; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Lambourne L; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Gebbia M; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, ON, Canada., Coté AG; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, ON, Canada., van Loggerenberg W; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Fawcett KM; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Steiner RD; Department of Pediatrics, University of Wisconsin-Madison, Madison, WA, USA.; Wisconsin Department of Health Services, Madison, WA, USA., Johnsen JM; Division of Hematology and Oncology, Department of Medicine, University of Washington, Seattle, WA, USA.; Center for Cardiovascular Biology, University of Washington, Seattle, WA, USA., Stergachis AB; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Division of Medical Genetics, School of Medicine, University of Washington, Seattle, WA, USA., Iakoucheva LM; Department of Psychiatry, University of California San Diego, La Jolla, CA, USA., Singh S; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Cimini BA; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Roth FP; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, ON, Canada.; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Computer Science, University of Toronto, Toronto, ON, Canada., James RG; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA., Vidal M; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Taipale M; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Carpenter AE; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Calderwood MA; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Craven M; Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA., Pejaver V; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Rubin AF; Collaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia., Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Fowler DM; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Starita LM; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA. |
| Corporate Authors: | IGVF Coding Variants Focus Group |
| Source: | BioRxiv : the preprint server for biology [bioRxiv] 2026 Feb 23. Date of Electronic Publication: 2026 Feb 23. |
| Publication Type: | Journal Article; Preprint |
| Journal Info: | Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41727046 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A scalable approach to resolving variants of uncertain significance. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Tejura+M%22">Tejura M</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22McEwen+AE%22">McEwen AE</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Stewart+R%22">Stewart R</searchLink>; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Sverchkov+Y%22">Sverchkov Y</searchLink>; Department of Biostatistics and Medical Informatics, University of Wisconsin, Madison, WI, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Laval+F%22">Laval F</searchLink>; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Woo+I%22">Woo I</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Zeiberg+D%22">Zeiberg D</searchLink>; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Shen+R%22">Shen R</searchLink>; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Fayer+S%22">Fayer S</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Stone+J%22">Stone J</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Smith+N%22">Smith N</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Casadei+S%22">Casadei S</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Wang+ZR%22">Wang ZR</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Snyder+MW%22">Snyder MW</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Capodanno+BJ%22">Capodanno BJ</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Gupta+P%22">Gupta P</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Division of Medical Genetics, School of Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Benazouz+M%22">Benazouz M</searchLink>; Molecular Engineering and Sciences Institute, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Jain+S%22">Jain S</searchLink>; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Heidl+S%22">Heidl S</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Muffley+L%22">Muffley L</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Dong+S%22">Dong S</searchLink>; Department of Genetics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Hitz+BC%22">Hitz BC</searchLink>; Department of Genetics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Gabdank+I%22">Gabdank I</searchLink>; Department of Genetics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Lin+K%22">Lin K</searchLink>; Department of Genetics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Da+EY%22">Da EY</searchLink>; Department of Bioinformatics, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Best+S%22">Best S</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Grindstaff+S%22">Grindstaff S</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Reinhart+D%22">Reinhart D</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Salas+L%22">Rodriguez-Salas L</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Seid+O%22">Seid O</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Vandi+AJ%22">Vandi AJ</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Wenman+C%22">Wenman C</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Wheelock+MK%22">Wheelock MK</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Pendyala+S%22">Pendyala S</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Medical Scientist Training Program, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Holmes+D%22">Holmes D</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Xu+A%22">Xu A</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Hosokai+A%22">Hosokai A</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Tixhon+M%22">Tixhon M</searchLink>; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Reno+C%22">Reno C</searchLink>; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Ewald+JD%22">Ewald JD</searchLink>; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, UK.<br /><searchLink fieldCode="AU" term="%22Spirohn-Fitzgerald+K%22">Spirohn-Fitzgerald K</searchLink>; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Teelucksingh+T%22">Teelucksingh T</searchLink>; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Hao+T%22">Hao T</searchLink>; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Chen+ZS%22">Chen ZS</searchLink>; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Haghighi+M%22">Haghighi M</searchLink>; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Hamid+AK%22">Hamid AK</searchLink>; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Miglietta+EA%22">Miglietta EA</searchLink>; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Weisbart+E%22">Weisbart E</searchLink>; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Coppin+G%22">Coppin G</searchLink>; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lambourne+L%22">Lambourne L</searchLink>; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Gebbia+M%22">Gebbia M</searchLink>; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Coté+AG%22">Coté AG</searchLink>; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22van+Loggerenberg+W%22">van Loggerenberg W</searchLink>; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Fawcett+KM%22">Fawcett KM</searchLink>; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Steiner+RD%22">Steiner RD</searchLink>; Department of Pediatrics, University of Wisconsin-Madison, Madison, WA, USA.; Wisconsin Department of Health Services, Madison, WA, USA.<br /><searchLink fieldCode="AU" term="%22Johnsen+JM%22">Johnsen JM</searchLink>; Division of Hematology and Oncology, Department of Medicine, University of Washington, Seattle, WA, USA.; Center for Cardiovascular Biology, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Stergachis+AB%22">Stergachis AB</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Division of Medical Genetics, School of Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Iakoucheva+LM%22">Iakoucheva LM</searchLink>; Department of Psychiatry, University of California San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Singh+S%22">Singh S</searchLink>; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Cimini+BA%22">Cimini BA</searchLink>; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Roth+FP%22">Roth FP</searchLink>; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, ON, Canada.; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Computer Science, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22James+RG%22">James RG</searchLink>; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Vidal+M%22">Vidal M</searchLink>; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Taipale+M%22">Taipale M</searchLink>; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Carpenter+AE%22">Carpenter AE</searchLink>; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Calderwood+MA%22">Calderwood MA</searchLink>; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Craven+M%22">Craven M</searchLink>; Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA.<br /><searchLink fieldCode="AU" term="%22Pejaver+V%22">Pejaver V</searchLink>; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Rubin+AF%22">Rubin AF</searchLink>; Collaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Radivojac+P%22">Radivojac P</searchLink>; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Fowler+DM%22">Fowler DM</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Starita+LM%22">Starita LM</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22IGVF+Coding+Variants+Focus+Group%22">IGVF Coding Variants Focus Group</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101680187%22">BioRxiv : the preprint server for biology</searchLink> [bioRxiv] 2026 Feb 23. <i>Date of Electronic Publication: </i>2026 Feb 23. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Preprint – Name: TitleSource Label: Journal Info Group: Src Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101680187 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2692-8205 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2226928205%22">26928205 </searchLink><i>NLM ISO Abbreviation: </i>bioRxiv <i>Subsets: </i>PubMed not MEDLINE |
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